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Items: 13


Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

Giardino G, Gallo V, Somma D, Farrow EG, Thiffault I, D'Assante R, Donofrio V, Paciolla M, Ursini MV, Leonardi A, Saunders CJ, Pignata C.

J Allergy Clin Immunol. 2016 May;137(5):1591-1595.e4. doi: 10.1016/j.jaci.2015.09.050. Epub 2015 Nov 26. No abstract available.


EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, Lioi MB, Ursini MV.

Int Rev Immunol. 2015;34(6):445-59. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13. Review.


Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M, Pescatore A, Conte MI, Esposito E, Incoronato M, Lioi MB, Fusco F, Ursini MV.

Genes Immun. 2015 Jun;16(4):239-46. doi: 10.1038/gene.2015.3. Epub 2015 Mar 12. Review.


Incontinentia pigmenti: report on data from 2000 to 2013.

Fusco F, Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, Lioi MB, Ursini MV.

Orphanet J Rare Dis. 2014 Jun 24;9:93. doi: 10.1186/1750-1172-9-93.


Antioxidant Potential of the Polyherbal Formulation "ImmuPlus": A Nutritional Supplement for Horses.

Cecchini S, Paciolla M, Caputo AR, Bavoso A.

Vet Med Int. 2014;2014:434239. doi: 10.1155/2014/434239. Epub 2014 May 4.


Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV.

Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12.


Ontogenetic profile of innate immune related genes and their tissue-specific expression in brown trout, Salmo trutta (Linnaeus, 1758).

Cecchini S, Paciolla M, Biffali E, Borra M, Ursini MV, Lioi MB.

Fish Shellfish Immunol. 2013 Sep;35(3):988-92. doi: 10.1016/j.fsi.2013.05.026. Epub 2013 Jun 10.


A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG.

Am J Hum Genet. 2013 Jan 10;92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13.


Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV.

Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556. Epub 2011 Nov 25.


Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi MB, Ursini MV, Miano MG.

Hum Reprod. 2011 Nov;26(11):3186-96. doi: 10.1093/humrep/der266. Epub 2011 Aug 22.


Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-κB/p65 activation during in vitro oocyte maturation and early embryogenesis.

Paciolla M, Boni R, Fusco F, Pescatore A, Poeta L, Ursini MV, Lioi MB, Miano MG.

Hum Reprod. 2011 May;26(5):1191-201. doi: 10.1093/humrep/der040. Epub 2011 Feb 26.


Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV.

Hum Mutat. 2009 Sep;30(9):1284-91. doi: 10.1002/humu.21069.


Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.

Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739.


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